Mutations in NR5A1 Associated with Ovarian Insufficiency

 The genetic causes of nonsyndromic ovarian insufficiency are largely unknown. A nuclear receptor, NR5A1 (also called steroidogenic factor 1), is a key transcriptional regulator of genes involved in the hypothalamic–pituitary–steroidogenic axis. Mutation of NR5A1 causes 46,XY disorders of sex development, with or without adrenal failure, but growing experimental evidence from studies in mice suggests a key role for this factor in ovarian development and function as well.

Conclusions NR5A1 mutations are associated with 46,XX primary ovarian insufficiency and 46,XY disorders of sex development.

Read Full Article at N.E.J.M : http://content.nejm.org/cgi/content/full/NEJMoa0806228?query=TOC